SMARCE1

Publications

Kosho T et al. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet. 2014;166C:262–75. PMID: 25168959.

Mannino EA et al. First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. Am J Med Genet A. 2018;176(11)2250-2258. PMID: 30276971.

Schrier SA et al. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012;158A(8):1865–76. PMID: 22711679.

Zarate YA et al. SMARCE1, a Rare Cause of Coffin-Siris Syndrome: Clinical description of Three addtional cases. Am J Med Genet A. 2016;170(8):1967-73. PMID: 27264197.